Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01710:Nomo1'

104741

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Nomo1

Ensembl Gene

ENSMUSG00000030835

Gene Name

nodal modulator 1

Synonyms

D7Ertd156e, Nomo, PM5

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.672) question?

Stock #

IGL01710

Quality Score

Status

Chromosome

Chromosomal Location

45683122-45733636 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 45687980 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Glutamine at position 82 (L82Q)

Ref Sequence

ENSEMBL: ENSMUSP00000033121 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000033121]

AlphaFold

Q6GQT9

Predicted Effect

probably damaging
Transcript: ENSMUST00000033121
AA Change: L82Q

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000033121
Gene: ENSMUSG00000030835
AA Change: L82Q

Domain	Start	End	E-Value	Type
low complexity region	2	21	N/A	INTRINSIC
internal_repeat_1	22	215	2.35e-7	PROSPERO
Pfam:CarboxypepD_reg	322	395	3.5e-12	PFAM
Pfam:DUF2012	331	401	5.7e-10	PFAM
low complexity region	709	732	N/A	INTRINSIC
low complexity region	881	893	N/A	INTRINSIC
Blast:FN3	913	1017	6e-22	BLAST
low complexity region	1156	1164	N/A	INTRINSIC
low complexity region	1203	1214	N/A	INTRINSIC

Coding Region Coverage

Validation Efficiency

Allele List at MGI

All alleles(8) : Gene trapped(8)

Other mutations in this stock

Total: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ablim3	G	A	18: 62,004,645 (GRCm39)	T48I	probably damaging	Het
Ccpg1	T	C	9: 72,904,723 (GRCm39)		probably benign	Het
Chkb	G	A	15: 89,310,843 (GRCm39)	Q379*	probably null	Het
Chst15	T	A	7: 131,872,236 (GRCm39)	D15V	probably benign	Het
Cntn4	G	A	6: 106,527,392 (GRCm39)	V425I	possibly damaging	Het
Cpa6	T	A	1: 10,395,497 (GRCm39)	N390I	probably damaging	Het
Efhd2	A	G	4: 141,587,872 (GRCm39)	F193S	probably damaging	Het
Ell3	T	C	2: 121,271,993 (GRCm39)	H128R	probably damaging	Het
Ercc5	T	G	1: 44,203,235 (GRCm39)	L291V	probably damaging	Het
Eva1c	A	G	16: 90,701,235 (GRCm39)	Y302C	probably damaging	Het
Fmo3	A	C	1: 162,810,612 (GRCm39)	L26R	probably damaging	Het
Galntl6	T	A	8: 58,989,002 (GRCm39)	D17V	probably damaging	Het
Gm6483	C	T	8: 19,741,629 (GRCm39)	P55S	probably damaging	Het
Gstt2	A	G	10: 75,669,579 (GRCm39)		probably benign	Het
Hmcn2	T	A	2: 31,233,114 (GRCm39)	L221Q	probably damaging	Het
Hoxa3	T	C	6: 52,147,554 (GRCm39)		probably benign	Het
Kctd12b	T	C	X: 152,472,479 (GRCm39)	D70G	probably damaging	Het
Kdm7a	T	A	6: 39,152,320 (GRCm39)	E125D	probably benign	Het
Klk1b21	T	A	7: 43,755,919 (GRCm39)	F249L	probably benign	Het
Mrpl41	T	C	2: 24,864,429 (GRCm39)	D81G	possibly damaging	Het
Or5p58	G	T	7: 107,694,449 (GRCm39)	F109L	probably benign	Het
Papolg	A	T	11: 23,814,026 (GRCm39)	S718T	probably damaging	Het
Pex6	A	G	17: 47,036,252 (GRCm39)		probably benign	Het
Pi4k2a	T	A	19: 42,093,418 (GRCm39)	L253Q	probably damaging	Het
Prdx6b	T	A	2: 80,123,490 (GRCm39)	F100I	probably damaging	Het
Prr36	G	A	8: 4,265,243 (GRCm39)	P169L	probably damaging	Het
Ptgfrn	T	C	3: 100,980,404 (GRCm39)	E312G	probably damaging	Het
Rasgrf1	A	G	9: 89,873,745 (GRCm39)	I685V	probably benign	Het
Setdb1	T	C	3: 95,246,164 (GRCm39)	E586G	probably damaging	Het
Sez6l2	C	A	7: 126,567,388 (GRCm39)	T841K	probably damaging	Het
Slc25a17	A	T	15: 81,211,527 (GRCm39)	L163*	probably null	Het
Slc35f3	A	T	8: 127,115,900 (GRCm39)	I276F	probably benign	Het
Tcerg1l	T	A	7: 137,996,789 (GRCm39)	K149N	possibly damaging	Het
Tex28	T	A	X: 73,195,939 (GRCm39)	K278*	probably null	Het
Tmprss9	A	G	10: 80,733,793 (GRCm39)		probably benign	Het
Tnfaip8l1	A	G	17: 56,478,782 (GRCm39)	K24R	probably benign	Het
Trim36	T	C	18: 46,321,455 (GRCm39)		probably benign	Het
Uba1	C	T	X: 20,537,604 (GRCm39)	T274I	possibly damaging	Het
Ubr2	T	C	17: 47,254,335 (GRCm39)	T1439A	probably benign	Het
Ubr4	A	G	4: 139,145,772 (GRCm39)	D1523G	possibly damaging	Het
Uchl4	A	T	9: 64,142,788 (GRCm39)	T90S	probably benign	Het

Other mutations in Nomo1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00331:Nomo1	APN	7	45,694,760 (GRCm39)	missense	possibly damaging	0.66
IGL00811:Nomo1	APN	7	45,732,732 (GRCm39)	missense	possibly damaging	0.95
IGL01797:Nomo1	APN	7	45,706,086 (GRCm39)	missense	probably damaging	0.96
IGL01973:Nomo1	APN	7	45,732,651 (GRCm39)	splice site	probably benign
IGL02506:Nomo1	APN	7	45,727,480 (GRCm39)	missense	possibly damaging	0.50
IGL02739:Nomo1	APN	7	45,693,731 (GRCm39)	splice site	probably null
IGL02863:Nomo1	APN	7	45,696,340 (GRCm39)	missense	probably damaging	0.98
P0005:Nomo1	UTSW	7	45,686,981 (GRCm39)	critical splice acceptor site	probably null
PIT4243001:Nomo1	UTSW	7	45,693,705 (GRCm39)	missense	probably damaging	1.00
R0106:Nomo1	UTSW	7	45,687,056 (GRCm39)	missense	probably damaging	1.00
R0106:Nomo1	UTSW	7	45,687,056 (GRCm39)	missense	probably damaging	1.00
R0124:Nomo1	UTSW	7	45,732,652 (GRCm39)	splice site	probably benign
R0239:Nomo1	UTSW	7	45,729,018 (GRCm39)	critical splice donor site	probably null
R0239:Nomo1	UTSW	7	45,729,018 (GRCm39)	critical splice donor site	probably null
R0417:Nomo1	UTSW	7	45,718,122 (GRCm39)	missense	possibly damaging	0.51
R0467:Nomo1	UTSW	7	45,721,911 (GRCm39)	splice site	probably null
R0535:Nomo1	UTSW	7	45,721,941 (GRCm39)	missense	probably damaging	0.99
R0829:Nomo1	UTSW	7	45,725,596 (GRCm39)	splice site	probably benign
R0940:Nomo1	UTSW	7	45,683,329 (GRCm39)	missense	possibly damaging	0.56
R1480:Nomo1	UTSW	7	45,710,337 (GRCm39)	missense	probably damaging	0.98
R1601:Nomo1	UTSW	7	45,696,379 (GRCm39)	missense	probably damaging	0.96
R1743:Nomo1	UTSW	7	45,719,461 (GRCm39)	critical splice donor site	probably null
R1765:Nomo1	UTSW	7	45,715,717 (GRCm39)	missense	possibly damaging	0.59
R1861:Nomo1	UTSW	7	45,727,525 (GRCm39)	missense	probably benign	0.06
R1998:Nomo1	UTSW	7	45,683,368 (GRCm39)	missense	possibly damaging	0.69
R1999:Nomo1	UTSW	7	45,706,151 (GRCm39)	missense	possibly damaging	0.95
R2145:Nomo1	UTSW	7	45,715,928 (GRCm39)	missense	probably damaging	1.00
R2869:Nomo1	UTSW	7	45,696,361 (GRCm39)	missense	probably damaging	0.96
R2869:Nomo1	UTSW	7	45,696,361 (GRCm39)	missense	probably damaging	0.96
R2870:Nomo1	UTSW	7	45,696,361 (GRCm39)	missense	probably damaging	0.96
R2870:Nomo1	UTSW	7	45,696,361 (GRCm39)	missense	probably damaging	0.96
R2871:Nomo1	UTSW	7	45,696,361 (GRCm39)	missense	probably damaging	0.96
R2871:Nomo1	UTSW	7	45,696,361 (GRCm39)	missense	probably damaging	0.96
R2873:Nomo1	UTSW	7	45,696,361 (GRCm39)	missense	probably damaging	0.96
R4116:Nomo1	UTSW	7	45,683,320 (GRCm39)	missense	probably benign	0.06
R4404:Nomo1	UTSW	7	45,706,092 (GRCm39)	missense	probably benign	0.00
R4406:Nomo1	UTSW	7	45,706,092 (GRCm39)	missense	probably benign	0.00
R4560:Nomo1	UTSW	7	45,690,904 (GRCm39)	missense	probably damaging	0.99
R4633:Nomo1	UTSW	7	45,699,684 (GRCm39)	splice site	probably benign
R4651:Nomo1	UTSW	7	45,717,866 (GRCm39)	missense	probably damaging	0.99
R4653:Nomo1	UTSW	7	45,711,237 (GRCm39)	missense	probably benign	0.01
R4752:Nomo1	UTSW	7	45,706,626 (GRCm39)	missense	probably damaging	1.00
R4792:Nomo1	UTSW	7	45,693,643 (GRCm39)	splice site	probably null
R4838:Nomo1	UTSW	7	45,733,139 (GRCm39)	missense	unknown
R4876:Nomo1	UTSW	7	45,715,915 (GRCm39)	missense	probably damaging	1.00
R4915:Nomo1	UTSW	7	45,693,656 (GRCm39)	missense	probably benign	0.30
R4953:Nomo1	UTSW	7	45,700,155 (GRCm39)	intron	probably benign
R5463:Nomo1	UTSW	7	45,712,426 (GRCm39)	missense	possibly damaging	0.47
R5664:Nomo1	UTSW	7	45,725,581 (GRCm39)	missense	probably benign
R5956:Nomo1	UTSW	7	45,692,037 (GRCm39)	missense	possibly damaging	0.51
R6037:Nomo1	UTSW	7	45,712,423 (GRCm39)	missense	possibly damaging	0.64
R6037:Nomo1	UTSW	7	45,712,423 (GRCm39)	missense	possibly damaging	0.64
R6307:Nomo1	UTSW	7	45,683,260 (GRCm39)	unclassified	probably benign
R6695:Nomo1	UTSW	7	45,715,885 (GRCm39)	missense	probably benign	0.16
R6970:Nomo1	UTSW	7	45,695,391 (GRCm39)	missense	probably damaging	0.97
R7334:Nomo1	UTSW	7	45,732,692 (GRCm39)	missense	probably damaging	1.00
R7394:Nomo1	UTSW	7	45,715,903 (GRCm39)	missense	probably benign	0.26
R7556:Nomo1	UTSW	7	45,715,642 (GRCm39)	missense	probably damaging	1.00
R7834:Nomo1	UTSW	7	45,706,162 (GRCm39)	critical splice donor site	probably null
R7979:Nomo1	UTSW	7	45,690,986 (GRCm39)	missense	probably null
R8193:Nomo1	UTSW	7	45,692,037 (GRCm39)	missense	possibly damaging	0.51
R8841:Nomo1	UTSW	7	45,707,911 (GRCm39)	missense	probably benign	0.00
R8906:Nomo1	UTSW	7	45,722,004 (GRCm39)	missense	probably benign	0.06
R9049:Nomo1	UTSW	7	45,715,597 (GRCm39)	missense	probably benign	0.01
R9087:Nomo1	UTSW	7	45,732,748 (GRCm39)	missense	probably benign	0.00
R9176:Nomo1	UTSW	7	45,730,828 (GRCm39)	missense	possibly damaging	0.88
Z1177:Nomo1	UTSW	7	45,715,697 (GRCm39)	missense	probably benign	0.17

Posted On

2014-01-21